{"orpha":466732,"name":"OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using ALG9-CDG","url":"https://raremap.alftech.space/d/ORPHA-466732/","orphanet_url":"https://www.orpha.net/en/disease/detail/466732","names":{"fr":{"name":"OBSOLETE : Syndrome létal de brachymélie-polykystose rénale-malformation cardiaque congénitale","synonyms":["OBSOLETE : Syndrome de Gillessen-Kaesbach-Nishimura"]},"de":{"name":"OBSOLET: Letale Brachymelie-polyzystische Nierenkrankheit-kongenitaler Herzfehler-Syndrom","synonyms":["OBSOLET: Gillessen-Kaesbach-Nishimura-Syndrom"]},"es":{"name":"OBSOLETO: Síndrome letal de braquimelia-enfermedad del riñón poliquístico-defecto congénito del corazón","synonyms":["OBSOLETO: Síndrome de Gillessen-Kaesbach-Nishimura"]},"it":{"name":"OBSOLETO: Sindrome brachimelia letale-malattia del rene policistico-cardiopatia congenita"},"nl":{"name":"OBSOLEET: Letale brachymelie - polycystische nierziekte - congenitaal hartdefect-syndroom","synonyms":["OBSOLEET: Syndroom van Gillessen-Kaesbach-Nishimura"]},"pt":{"name":"OBSOLETO: Doença renal braquimelia-policística letal - síndrome de cardiopatia congénita"},"pl":{"name":"NIEAKTUALNE: Smiertelny zespól brachymelii, wielotorbielowatej choroby nerek oraz wrodzonej wady serca","synonyms":["NIEAKTUALNE: Zespół Gillessena, Kaesbacha i Nishimura"]},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující smrtelnou brachymelii, polycystickou chorobu ledvin a vrozenou srdeční vadu","synonyms":["OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome"]},"uk":{"name":"ЗАСТАРІЛО: Синдром летальної брахімелії-полікістозу нирок-вродженої вади серця","synonyms":["ЗАСТАРІЛО: Синдром Гіллессена-Кесбаха-Нішимури"]},"zh":{"name":"已废除：致死性短颈肌多囊肾疾病先天性心脏缺陷综合征","synonyms":["吉列森-凯斯巴赫-西村综合征"]},"tr":{"name":"Eski adı: Letal brachymelia-polikistik böbrek hastalığı-doğumsal kalp defekti sendromu","synonyms":["Gillessen-Kaesbach-Nishimura sendromu"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":79328,"name":"ALG9-CDG"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}